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    PPP3R2 protein phosphatase 3 regulatory subunit B, beta [ Homo sapiens (human) ]

    Gene ID: 5535, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PPP3R2provided by HGNC
    Official Full Name
    protein phosphatase 3 regulatory subunit B, betaprovided by HGNC
    Primary source
    HGNC:HGNC:9318
    See related
    Ensembl:ENSG00000188386 MIM:613821; AllianceGenome:HGNC:9318
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PPP3RL
    Summary
    Enables calcium-dependent protein serine/threonine phosphatase regulator activity. Predicted to be involved in calcineurin-mediated signaling. Predicted to act upstream of or within penetration of zona pellucida. Predicted to be located in mitochondrion and sperm mitochondrial sheath. Predicted to be part of calcineurin complex. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
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    Genomic context

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    See PPP3R2 in Genome Data Viewer
    Location:
    9q31.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (101591604..101594969, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (113766356..113769721, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (104353886..104357251, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene TMEM246 antisense RNA 1 Neighboring gene post-GPI attachment to proteins GalNAc transferase 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:104275376-104275886 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:104275887-104276395 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:104276396-104276905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:104286647-104287146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28726 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:104316489-104316706 Neighboring gene ring finger protein 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28727 Neighboring gene uncharacterized LOC105376186 Neighboring gene glutamate ionotropic receptor NMDA type subunit 3A Neighboring gene Sharpr-MPRA regulatory region 1857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:104500238-104500762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:104500763-104501286 Neighboring gene MT-ND3 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Characterization of a human regulatory subunit of protein phosphatase 3 gene (PPP3RL) expressed specifically in testis. Liu L, et al. Mol Biol Rep, 2005 Mar. PMID 15865209
    2. The calcineurin activity profiles of cyclosporin and tacrolimus are different in stable renal transplant patients. Koefoed-Nielsen PB, et al. Transpl Int, 2006 Oct. PMID 16961774
    3. Mitotic regulation of CDK4 by the serine/threonine phosphatase, calcineurin. Chow R, et al. Biochem Biophys Res Commun, 2007 Nov 23. PMID 17892862
    4. cDNA cloning of a novel testis-specific calcineurin B-like protein. Mukai H, et al. Biochem Biophys Res Commun, 1991 Sep 30. PMID 1718268
    5. A new calcineurin inhibition domain in Cabin1. Jang H, et al. Biochem Biophys Res Commun, 2007 Jul 20. PMID 17531200

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Polymorphisms in the calcineurin genes are associated with the training responsiveness of cardiac phenotypes in Chinese young adults.
    3. Data suggest an association between polymorphisms in PPP3CA, PPP3R1 and PPP3R2 and baseline levels or trainability of endurance phenotype traits.
      Title: Are calcineurin genes associated with endurance phenotype traits?
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Are calcineurin genes associated with endurance phenotype traits?
    5. Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.
    6. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Systematic association mapping identifies NELL1 as a novel IBD disease gene.
    7. Data suggest that calcineurin may regulate the kinase activity of CDK4 in a cell cycle-dependent manner and may be an important component of the negative regulation of CDK4.
      Title: Mitotic regulation of CDK4 by the serine/threonine phosphatase, calcineurin.
    8. cyclosporin and tacrolimus exert significantly different effects on calcineurin activity in renal transplant patients with stable, well-functioning grafts
      Title: The calcineurin activity profiles of cyclosporin and tacrolimus are different in stable renal transplant patients.
    9. Here, we report that Cabin1 has additional CN binding domain in its 701-900 amino acid residues.
      Title: A new calcineurin inhibition domain in Cabin1.
    10. calcineurin B potentiates the activation of procaspase-3 by accelerating its proteolytic maturation
      Title: Calcineurin potentiates the activation of procaspase-3 by accelerating its proteolytic maturation.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120-induced dephosphorylation of KV2.1 is dependent on NMDA receptor-mediated activation of protein phosphatase 2B or calcineurin PubMed
    Tat tat Induction of TNF-alpha by HIV-1 Tat is inhibited by cyclosporin A, an inhibitor of calcineurin that acts by preventing the dephosphorylation of NF-AT, suggesting Tat activates calcineurin PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium-dependent protein serine/threonine phosphatase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent protein serine/threonine phosphatase regulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcineurin-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of calcium ion import across plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in penetration of zona pellucida IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of calcineurin-NFAT signaling cascade NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of calcium ion import across plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of calcineurin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of calcineurin complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein serine/threonine phosphatase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in sperm mitochondrial sheath IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    calcineurin subunit B type 2
    Names
    CBLP
    CNBII
    calcineurin B, type II (19kDa)
    calcineurin B-like protein
    calcineurin BII
    protein phosphatase 2B regulatory subunit 2
    NP_671709.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_147180.4 → NP_671709.2  calcineurin subunit B type 2

      Status: VALIDATED

      Source sequence(s)
      AA904764, AL591377, BC030595
      Consensus CDS
      CCDS6759.2
      UniProtKB/Swiss-Prot
      Q5VTR4, Q7Z4V8, Q8WYJ4, Q96LZ3
      Related
      ENSP00000363939.2, ENST00000374806.2
      Conserved Domains (1) summary
      COG5126
      Location:13 → 159
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      101591604..101594969 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      113766356..113769721 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LZ3.3 GenPept UniProtKB/Swiss-Prot:Q96LZ3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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